Gasser Benedikt, Kurz Johann, Escher Genevieve, Mistry Hiten D, Mohaupt Markus G
Department of Movement, Science and Sports, University of Basel, 4052 Basel, Switzerland.
Department of Clinical Research, University of Bern, 3010 Berne, Switzerland.
Life (Basel). 2022 Jul 7;12(7):1004. doi: 10.3390/life12071004.
Background: Evidence exists that steroid hormones are altered in individuals with autism, especially androgens. Despite lower prevalence in girls than boys, evidence of potential alterations in progesterone metabolites is sparse, so the aim of this study was to elucidate different progesterone metabolites in affected children with autism versus healthy controls. Material and Methods: Circadian urine samples from 48 boys and 16 girls with autism spectrum disorders and a matched case−control group were analysed for progesterone metabolites by gas chromatography−mass spectrometry and normalised for creatinine excretion. Results: In boys with autism, the majority of progesterone metabolites were reduced, such as progesterone, 6a-OH-3a5b-TH-progesterone, or 20a-DH-progesterone (p < 0.01 for all). In girls with autism, a similar pattern of reduction in progesterone metabolites was detected; however, potentially due to the relatively small sample, this pattern was only detectable on the level of a trend. Discussion: As stated, androgen levels are higher in boys and girls with autism, but evidence for progesterone metabolites is much sparser. The pattern of a decrease in progesterone metabolites suggests the existence of an altered routing of steroid metabolites, probably in combination with a dysregulation of the HPAG axis. As, recently, increased CYP17A1 activity has been suggested, the stronger routing towards androgens is further implied in line with our findings of lower progesterone concentrations in boys and girls with autism than healthy controls.
有证据表明，自闭症患者体内的类固醇激素会发生变化，尤其是雄激素。尽管女孩的患病率低于男孩，但关于孕酮代谢物潜在变化的证据却很少，因此本研究的目的是阐明自闭症患儿与健康对照者体内不同的孕酮代谢物。材料与方法：采用气相色谱-质谱联用技术分析了48名患有自闭症谱系障碍的男孩和16名女孩以及匹配的病例对照组的昼夜尿样中的孕酮代谢物，并根据肌酐排泄量进行了标准化处理。结果：在患有自闭症的男孩中，大多数孕酮代谢物减少，如孕酮、6a-羟基-3a5b-四氢孕酮或20a-二氢孕酮（所有p值均<0.01）。在患有自闭症女孩中，也检测到了类似的孕酮代谢物减少模式；然而，可能由于样本量相对较小，这种模式仅在趋势水平上可检测到。讨论：如前所述，患有自闭症的男孩和女孩体内雄激素水平较高，但孕酮代谢物的证据要少得多。孕酮代谢物减少的模式表明存在类固醇代谢物的改变途径，可能与下丘脑-垂体-肾上腺-性腺（HPAG）轴的失调有关。由于最近有人提出细胞色素P450 17A1（CYP17A1）活性增加，这进一步暗示了与我们的研究结果一致的更强的向雄激素转化途径，即自闭症男孩和女孩体内的孕酮浓度低于健康对照者。
